Obituaries

	Robert J Gorlin, DDS, MS (1923–2006): a geneticist for all seasons Charis Eng J Med Genet 2007; 44: 478-479. [Extract] [Full text] [PDF] [Request Permissions]
	Robert J Gorlin, DDS, MS (1923–2006): a geneticist for all countries Dian Donnai J Med Genet 2007; 44: 480. [Extract] [Full text] [PDF] [Request Permissions]

Reviews

	MECP2 mutations in males Laurent Villard J Med Genet 2007; 44: 417-423. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 9 March 2007. doi:10.1136/jmg.2007.049452

Original articles

	Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification D Gareth R Evans, R T Ramsden, A Shenton, C Gokhale, N L Bowers, S M Huson, G Pichert, and A Wallace J Med Genet 2007; 44: 424-428. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 16 February 2007. doi:10.1136/jmg.2006.047753
	Analysis of sex chromosome abnormalities using X and Y chromosome DNA tiling path arrays A C Karcanias, K Ichimura, M J Mitchell, C A Sargent, and N A Affara J Med Genet 2007; 44: 429-436. [Abstract] [Full text] [web only tables] [PDF] [Request Permissions]   Published Online First: 27 February 2007. doi:10.1136/jmg.2006.047852
	Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility Feng Zhang, Chuncheng Lu, Zheng Li, Pingxing Xie, Yankai Xia, Xiaobin Zhu, Bin Wu, Xiaoyun Cai, Xiaofeng Wang, Ji Qian, Xinru Wang, and Li Jin J Med Genet 2007; 44: 437-444. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 5 April 2007. doi:10.1136/jmg.2007.049056

Short reports

	Attenuated aerobic exercise capacity in CD36 deficiency Hidekatsu Yanai, Ichiro Watanabe, Kojiro Ishii, Mie Morimoto, Hironobu Fujiwara, Shigeru Yoshida, Shu-Ping Hui, Kazuhiko Matsuno, and Hitoshi Chiba J Med Genet 2007; 44: 445-447. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 5 April 2007. doi:10.1136/jmg.2007.050070

Letters to JMG

	Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region Anne Ronan, Kerry Fagan, Louise Christie, Jeffrey Conroy, Norma J Nowak, and Gillian Turner J Med Genet 2007; 44: 448-451. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 19 January 2007. doi:10.1136/jmg.2006.047373
	Autism, language delay and mental retardation in a patient with 7q11 duplication C Depienne, D Heron, C Betancur, B Benyahia, O Trouillard, D Bouteiller, A Verloes, E LeGuern, M Leboyer, and A Brice J Med Genet 2007; 44: 452-458. [Abstract] [Full text] [web only tables] [PDF] [Request Permissions]   Published Online First: 30 March 2007. doi:10.1136/jmg.2006.047092
	Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation Ineke van der Burgt, William Kupsky, Stephani Stassou, Ali Nadroo, Cândida Barroso, Angelika Diem, Christian P Kratz, Radovan Dvorsky, Mohammad Reza Ahmadian, and Martin Zenker J Med Genet 2007; 44: 459-462. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]   Published Online First: 5 April 2007. doi:10.1136/jmg.2007.049270
	Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1 J A McCaughan, S M Holloway, R Davidson, and W W K Lam J Med Genet 2007; 44: 463-466. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 27 February 2007. doi:10.1136/jmg.2006.048140
	Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations Luna Kadouri, Ayala Hubert, Yakir Rotenberg, Tamar Hamburger, Michal Sagi, Chovav Nechushtan, Dvorah Abeliovich, and Tamar Peretz J Med Genet 2007; 44: 467-471. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 16 February 2007. doi:10.1136/jmg.2006.048173
	The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene Charles E Schwartz, Patrick S Tarpey, Herbert A Lubs, Alain Verloes, Melanie M May, Hiba Risheg, Michael J Friez, P Andrew Futreal, Sarah Edkins, Jon Teague, Sylvain Briault, Cindy Skinner, Astrid Bauer-Carlin, Richard J Simensen, Sumy M Joseph, Julie R Jones, Josef Gecz, Michael R Stratton, F Lucy Raymond, and Roger E Stevenson J Med Genet 2007; 44: 472-477. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 16 March 2007. doi:10.1136/jmg.2006.048637

Miscellaneous

	CORRECTION J Med Genet 2007; 44: 471. doi:10.1136/jmg.2006.044388corr1 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations Richard H Scott, Tessa Homfray, Nicola L Huxter, Sally G Mitton, Ruth Nash, Mike N Potter, Donna Lancaster, and Nazneen Rahman J Med Genet 2007; 44: e83. doi:10.1136/jmg.2007.048942 [Abstract] [Full text] [PDF] [Request Permissions]
	De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features Oddmund Søvik, Suzanne Schubbert, Gunnar Houge, Solrun J Steine, Gunnar Norgård, Bernt Engelsen, Pål R Njølstad, Kevin Shannon, and Anders Molven J Med Genet 2007; 44: e84. doi:10.1136/jmg.2007.049361 [Abstract] [Full text] [PDF] [Request Permissions]
	Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract Surya Prakash G Ponnam, Kekunnaya Ramesha, Sushma Tejwani, Balasubramanya Ramamurthy, and Chitra Kannabiran J Med Genet 2007; 44: e85. doi:10.1136/jmg.2007.050138 [Abstract] [Full text] [PDF] [Request Permissions]